CHOROIDAL INVOLVEMENT IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS PATIENTS

Area of Science:

• Ophthalmology
• Genetics
• Cardiology

Background:

• Hereditary transthyretin amyloidosis (hATTR) is a progressive disease affecting multiple organs.
• Choroidal changes are increasingly recognized as potential biomarkers in systemic diseases.

Purpose of the Study:

• To compare choroidal characteristics between patients with and without hATTR.
• To investigate potential ocular biomarkers for hATTR progression and treatment efficacy.

Main Methods:

• A case-control observational study involving 332 eyes (166 hATTR patients, 166 controls).
• Choroidal thickness and vasculature were evaluated using optical coherence tomography with enhanced depth imaging of the macula.

Main Results:

• hATTR patients showed significantly higher stromal area, lower choroidal thickness, and lower choroidal vascularity index compared to controls across all analyzed sectors.
• No differences in choroidal characteristics were observed based on systemic treatment groups.

Conclusions:

• Statistically significant differences in choroidal morphology exist between hATTR patients and healthy individuals.
• These ocular changes may serve as valuable indicators for monitoring hATTR progression and assessing novel therapeutic interventions in clinical trials.